Myology research highlights

Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement. Here, the authors screened a large cohort of 38 index patients with MFM for mutations in the nine thus far known causative genes using Sanger and … [Read more]

Duchenne muscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000 boys. The golden retriever muscular dystrophy dog is the best clinically relevant DMD animal model. Here, the authors used a high-thoughput miRNA sequencing screening for identification of candidate serum miRNA biomarkers in golden retriever muscular dystrophy dogs. … [Read more]

Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by mutations in the dystrophin gene, without curative treatment yet available. This study is the first to provide the overall safety profile and therapeutic dose of a recombinant adeno-associated virus vector, serotype 8 (rAAV8) carrying a modified U7snRNA sequence. This sequence promotes exon skipping to … [Read more]

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results in functional deficits. However, these functional declines can often not be quantified in clinical trials for DMD until after age 7. In this study, the authors hypothesized that 1H2O T2 derived using 1H-MRS and MRI-T2 will be sensitive to muscle involvement at a young … [Read more]

Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy … [Read more]

Prednisone is often used for the treatment of autoimmune and inflammatory diseases but patients suffer from variable therapeutic responses and significant adverse effects. Serum biological markers that are modulated by chronic corticosteroid use have not been identified. Myasthenia gravis is an autoimmune neuromuscular disorder caused by antibodies directed against proteins present at the post-synaptic surface … [Read more]

In facioscapulohumeral dystrophy (FSHD), hypomethylation is moderate and heterogeneous in patients. To date, a correlation between hypomethylation and disease presence or severity has not been demonstrated. Here, the authors investigated the link between DNA hypomethylation and clinical penetrance in 95 FSHD cases (37 FSHD1, 29 asymptomatic individuals carrying a shortened D4Z4 array, 9 patients with … [Read more]

The investigational oral drug ataluren, in development to treat Duchenne muscular dystrophy (DMD) resulting from a specific type of genetic mutation, has received conditional approval in the European Union (EU). This designation allows patients to gain access to an experimental drug before it is fully approved. Ataluren, originally known as PTC124 and now bearing the … [Read more]

Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. In this randomized, double-blind, placebo-controlled study males ≥5 years with nm-dystrophinopathy received study drug orally 3 times daily, ataluren 10, 10, 20 … [Read more]

Duchenne and Becker muscular dystrophy (DBMD) are allelic disorders caused by mutations in dystrophin. Patients with DBMB lack neuronal nitric oxide synthase (nNOS), which mediates physiological sympatholysis, thus ensuring adequate blood supply to working muscle. In mice lacking dystrophin, restoration of nNOS effects by a phosphodiesterase 5 (PDE5) inhibitor (sildenafil), improves skeletal and cardiac muscle … [Read more]